A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.

A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.

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http://www.wikidata.org/entity/Q30391417
Identification of genomic variants putatively targeted by selection during dog domesticationAggresome-Autophagy Involvement in a Sarcopenic Patient with Rigid Spine Syndrome and a p.C150R Mutation in FHL1 GeneFour and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5).Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association oFhl1 W122S causes loss of protein function and late-onset mild myopathy.Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 geneReducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy.Development of autoantibodies against muscle-specific FHL1 in severe inflammatory myopathies.Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.Protein kinetic signatures of the remodeling heart following isoproterenol stimulation.The sarcomeric M-region: a molecular command center for diverse cellular processes.Mitochondrial abnormalities in the myofibrillar myopathies.Muscle hypertrophy as the presenting sign in a patient with a complete FHL1 deletion.Fhl1 as a downstream target of Wnt signaling to promote myogenesis of C2C12 cells.Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.
P2860

A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.

Item
http://www.wikidata.org/entity/Q30391417
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A novel mutation in FHL1 in a ...... tural study of FHL1 mutations.
@ast
A novel mutation in FHL1 in a ...... tural study of FHL1 mutations.
@en
type
label
A novel mutation in FHL1 in a ...... tural study of FHL1 mutations.
@ast
A novel mutation in FHL1 in a ...... tural study of FHL1 mutations.
@en
prefLabel
A novel mutation in FHL1 in a ...... tural study of FHL1 mutations.
@ast
A novel mutation in FHL1 in a ...... tural study of FHL1 mutations.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
A novel mutation in FHL1 in a ...... ctural study of FHL1 mutations
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932